This volume collates world experts’ insights into the molecular biology of cancer chromosomes, their abnormalities and the subsequent cellular consequences. Exploring themes involving oncogenes, such as by chromosomal translocations, other genome rearrangements and somatic mutations, this book is a review of the field of cancer genetics that presages a new era, as whole genome sequencing becomes more accessible. The work begins with a look at historical themes, such as the analysis of metaphase chromosomes using microscopy and staining techniques, advances in which provided our first broad glimpse into the genetic anatomy of a malignant cell. Readers will learn about the application of DNA molecular cloning techniques in the 1980s, that led to the identification of the genes involved in the Philadelphia and Burkitt's lymphoma chromosomal translocations, solidifying the role of oncogenes and tumour suppressor genes in cancer aetiology via chromosomal alterations and which launched a field in cancer genetics. Subsequent chapters bring the reader up to date by reviewing recent developments in the field, with dedicated sections on leukaemia/lymphoma, sarcomas and epithelial tumours. Contributions feature numerous colour tables and illustrations and this volume will provide a basis for understanding cancer chromosomes for many years to come.

This volume collates world experts' insights into the molecular biology of cancer chromosomes, their abnormalities and the subsequent cellular consequences. Exploring themes involving oncogenes, such as by chromosomal translocations, other genome rearrangements and somatic mutations, this book is a review of the field of cancer genetics that presages a new era, as whole genome sequencing becomes more accessible. The work begins with a look at historical themes, such as the analysis of metaphase chromosomes using microscopy and staining techniques, advances in which provided our first broad glimpse into the genetic anatomy of a malignant cell. Readers will learn about the application of DNA molecular cloning techniques in the 1980s, that led to the identification of the genes involved in the Philadelphia and Burkitt's lymphoma chromosomal translocations, solidifying the role of oncogenes and tumour suppressor genes in cancer aetiology via chromosomal alterations, and which launched a field in cancer genetics. Subsequent chapters bring the reader up to date by reviewing recent developments in the field, with dedicated sections on leukaemia/lymphoma, sarcomas and epithelial tumours. Contributions feature numerous colour tables and illustrations and this volume will provide a basis for understanding cancer chromosomes for many years to come.

This issue of Recent Results in Cancer Research presents a comprehensive review of current understanding of chromosomal instability in cancer and of strategies to use this information for better treatment of patients with cancer. Cancer is a disease of the chromosomes, and chromosomal instability in cancer disrupts gene function by either inactivating tumor suppressor genes or activating growth-promoting oncogenes. The chromosomal basis for these aberrations is either translocations, which change the integrity of genes, or abnormal numbers of chromosomes, a condition referred to as aneuploidy, which results in abnormal gene expression levels. Such structural or numerical chromosomal aberrations are specific for distinct tumor entities. The degree of chromosomal instability and the degree of intratumor heterogeneity have profound consequences for disease outcome and for therapeutic stratification.

Holland-Frei Cancer Medicine, Ninth Edition, offers a balanced view of the most current knowledge of cancer science and clinical oncology practice. This all-new edition is the consummate reference source for medical oncologists, radiation oncologists, internists, surgical oncologists, and others who treat cancer patients. A translational perspective throughout, integrating cancer biology with cancer management providing an in depth understanding of the disease An emphasis on multidisciplinary, research-driven patient care to improve outcomes and optimal use of all appropriate therapies Cutting-edge coverage of personalized cancer care, including molecular diagnostics and therapeutics Concise, readable, clinically relevant text with algorithms, guidelines and insight into the use of both conventional and novel drugs Includes free access to the Wiley Digital Edition providing search across the book, the full reference list with web links, illustrations and photographs, and post-publication updates

This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases. The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation. It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases.

In recent decades, advances in sequencing technologies have led to an explosion of discoveries in cancer. While observing large chromosomal abnormalities under the microscope has demonstrated genome rearrangements can drive cancer progression, more recent technologies enabled discoveries of mutations private to single cancer patients and uncovered a broader mutation diversity. My dissertation introduces novel connections between computational methods and sequencing techniques to solve open problems in genome rearrangement research. To improve non-invasive cancer monitoring, genome rearrangements can serve as the ideal cancer biomarker for accurately monitoring tumor burden and catching relapse earlier. My approach, AmBre (Amplication of Breakpoints), characterizes a target genome rearrangement's breakpoints for use as a quantitative marker in measuring amounts of tumor DNA. For a target genome rearrangement such as CDKN2A deletion, AmBre accounts for diverse deletion breakpoints and amplies any DNA harboring the CDKN2A deletion. Since only the tumor DNA is amplied, breakpoints can be detected in tissues or blood with little tumor DNA in high background of unmutated DNA. Furthermore, AmBre relies on sequencing technologies to read the enriched DNA. For parallel detection of breakpoints across numerous samples, a geometry based rearrangement caller was developed to handle long reads generated by Pacific Biosciences sequencing instruments. In addition, I will discuss the limitations of sequencing technologies in inferring mechanisms for rearranging genomes. Specifically, sequencing data alone cannot infer a complex cancer chromosome was formed by a single shattering and repair mechanism (chromothripsis) or a series of progressive rearrangements. Lastly, genomes are diploid and genome rearrangements can appear on one or both homologous chromosomes. Detecting genome rearrangements is challenging and inferring which chromosome is affected by the rearrangement is even more difficult. Having already called genome rearrangements such as deletions, I will show how proximity-ligation sequencing can be repurposed to assign deletions to a chromosome by phasing deletions with variants. In effect, my endeavors in genome rearrangement research show the field is constantly evolving with advances being made by complementing sequencing strategies and computational methods.

Development of cancer, a dreadful disease of mankind, is a multi-stage process involving numerous molecular alterations at both genomic and proteomic levels. Immense research for the past several decades in the field of cancer identified many such mutations and their role in carcinogenesis. Concept of 'fusion genes' seeded way back in 20th century has now grown into a new field of cancer research. However, there is a lack of knowledge among scientists about these fusion genes and their importance in cancer, which can be mainly attributed to unavailability of a comprehensive book on this topic. Therefore, this book is first of its kind and aims at giving a detailed idea on the formation of gene fusions and their importance in the development and progression of cancer; techniques to identify novel gene fusions; and therapeutics available to target various fusion proteins and their impact in cancer therapy by compiling the information from the literature available till date.